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The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Archives of disease in childhood, 2011-11, Vol.96 (11), p.1020-1025

2011

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Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

International journal of epidemiology, 2012-02, Vol.41 (1), p.250-262

2012

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Complement C3 Variant and the Risk of Age-Related Macular Degeneration

The New England journal of medicine, 2007-08, Vol.357 (6), p.553-561

2007

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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)

PLoS genetics, 2009-03, Vol.5 (3), p.e1000423-e1000423

2009

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Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Human molecular genetics, 2013-12, Vol.22 (23), p.4857-4869

2013

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Intellectual development before and after the onset of infantile spasms: A controlled prospective longitudinal study in tuberous sclerosis

Epilepsia (Copenhagen), 2014-01, Vol.55 (1), p.108-116

2014

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.544-552

2010

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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.807-814

1999

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Genetic variation in complement regulators and susceptibility to age-related macular degeneration

Immunobiology (1979), 2012-02, Vol.217 (2), p.158-161

2012

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No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.1-2

2012

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Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age‐related Macular Degeneration (AMD)

Acta ophthalmologica (Oxford, England), 2011-11, Vol.89 (7), p.e603-e604

2011

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Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome): e1000423

PLoS genetics, 2009-03, Vol.5 (3)

2009

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Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

Human genetics, 1999-05, Vol.104 (5), p.410-411

1999

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Opioid Use and Potency Are Associated With Clinical Features, Quality of Life, and Use of Resources in Patients With Gastroparesis

Clinical gastroenterology and hepatology, 2019-06, Vol.17 (7), p.1285-1294.e1

2019

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Id helix–loop–helix proteins inhibit nucleoprotein complex formation by the TCF ETS‐domain transcription factors

The EMBO journal, 1999-02, Vol.18 (4), p.968-976

1999

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Validation of the EULAR/ERA-EDTA recommendations for the management of ANCA-associated vasculitis by disease content experts

Rheumatic & musculoskeletal diseases open, 2017-01, Vol.3 (1), p.e000449-e000449

2017

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MyeliN-associated Glycoprotein Binding to Gangliosides: Structural Specificity and Functional Implications

Annals of the New York Academy of Sciences, 1998-06, Vol.845 (1), p.92-105

1998

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Haematologic determinants of left atrial spontaneous echo contrast in mitral stenosis

International journal of cardiology, 2001-12, Vol.81 (2), p.235-242

2001

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Selective small molecule inhibitors of glycogen synthase kinase-3 modulate glycogen metabolism and gene transcription

Chemistry & biology, 2000-10, Vol.7 (10), p.793-803

2000

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Suddenly Melungeon! Reconstructing Consumer Identity Across the Color Line

Consumer Culture Theory, 2007-01, Vol.11, p.241-259

2007

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Glycosphingolipid Biosynthesis May Not Be Necessary for Vertebrate Brain Development

Annals of the New York Academy of Sciences, 1998-06, Vol.845 (1), p.215-218

1998

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Infrared spectroscopic study of activated surface processes: CO chemisorption on supported Rh

The Journal of chemical physics, 1979-11, Vol.71 (10), p.3908-3915

1979

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Biochemistry of nitrogenase and the physiology of related metabolism

Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 1987-09, Vol.317 (1184), p.131-146

1987

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The continuous absorption of light in potassium vapour

Proceedings of the Royal Society of London. Series A, Mathematical and physical sciences, 1943-07, Vol.181 (987), p.386-399

1943

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The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

Complement C3 Variant and the Risk of Age-Related Macular Degeneration

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Intellectual development before and after the onset of infantile spasms: A controlled prospective longitudinal study in tuberous sclerosis

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age‐related Macular Degeneration (AMD)

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome): e1000423

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

Opioid Use and Potency Are Associated With Clinical Features, Quality of Life, and Use of Resources in Patients With Gastroparesis

Id helix–loop–helix proteins inhibit nucleoprotein complex formation by the TCF ETS‐domain transcription factors

Validation of the EULAR/ERA-EDTA recommendations for the management of ANCA-associated vasculitis by disease content experts

MyeliN-associated Glycoprotein Binding to Gangliosides: Structural Specificity and Functional Implications

Haematologic determinants of left atrial spontaneous echo contrast in mitral stenosis

Selective small molecule inhibitors of glycogen synthase kinase-3 modulate glycogen metabolism and gene transcription

Suddenly Melungeon! Reconstructing Consumer Identity Across the Color Line

Glycosphingolipid Biosynthesis May Not Be Necessary for Vertebrate Brain Development

Infrared spectroscopic study of activated surface processes: CO chemisorption on supported Rh

Biochemistry of nitrogenase and the physiology of related metabolism

The continuous absorption of light in potassium vapour

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